The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction

Cell Mol Life Sci. 2015 Aug;72(15):2961-71. doi: 10.1007/s00018-015-1878-2. Epub 2015 Mar 8.

Abstract

The ubiquitin-proteasome system (UPS) plays a fundamental role in protein degradation in neurons, and there is strong evidence that it fulfills a key role in synaptic transmission. The aim of the present work was to study the implication of one component of the UPS, the HERC1 E3 Ubiquitin Ligase, in motor function and neuromuscular transmission. The tambaleante (tbl) mutant mouse carries a spontaneous mutation in HERC1 E3 Ubiquitin Ligase, provoking an ataxic phenotype that develops in the second month of life. Our results show that motor performance in mutant mice is altered at postnatal day 30, before the cerebellar neurodegeneration takes place. This defect is associated with by: (a) a reduction of the motor end-plate area, (b) less efficient neuromuscular activity in vivo, and (c) an impaired evoked neurotransmitter release. Together, these data suggest that the HERC1 E3 Ubiquitin Ligase is fundamental for normal muscle function and that it is essential for neurotransmitter release at the mouse neuromuscular junction.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Efferent Pathways / metabolism
  • Efferent Pathways / physiology
  • Mice
  • Muscles / metabolism
  • Muscles / physiology
  • Neuromuscular Junction / metabolism*
  • Neuromuscular Junction / physiology
  • Proteasome Endopeptidase Complex / metabolism
  • Synaptic Transmission / physiology*
  • Ubiquitin-Protein Ligases / metabolism*

Substances

  • HERC1 protein, mouse
  • Ubiquitin-Protein Ligases
  • Proteasome Endopeptidase Complex